Pank2
Gene Detail

Symbol Name ID

Pank2 pantothenate kinase 2 MGI:1921700

Synonyms

4933409I19Rik

Feature Type

protein coding gene

Genetic Map

Chromosome 2

63.31 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)

Sequence Map

Chr2:131262495-131299188 bp, + strand From VEGA annotation of GRCm38   36694 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:65126  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 chicken; 1 zebrafish

Protein SuperFamily: pantothenate kinase, acetyl-CoA regulated, stand-alone type
Gene Tree: Pank2

Human homologs

Human Homolog		PANK2, pantothenate kinase 2
NCBI Gene ID		80025
neXtProt AC		NX_Q9BZ23
Human Synonyms		C20orf48, HARP, HSS, NBIA1, PKAN
Human Chr (Location)		20p13; chr20:3869486-3904502 (+)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human PANK2

Alleles and phenotypes

All alleles(31) : Targeted(5) Gene trapped(26)
 

Homozygous null mice display male infertility, arrested spermatogenesis, azoospermia, reduced female fertility, and retinal degeneration.

 

Gene Ontology (GO) classifications

All GO classifications: (4 annotations)

Process	phosphorylation
Component	mitochondrion
Function	kinase activity, pantothenate kinase activity

External Resources: FuncBase

Expression

Literature Summary: (2 records)
Data Summary: Results (94)    Tissues (94)   
Theiler Stages: 22

Assay Type	Results
RNA in situ	94

cDNA source data(12)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(14) Genomic(1) cDNA(13)
Microarray probesets(7)

Other database links

VEGA Gene Model	OTTMUSG00000016043 (Evidence)
Ensembl Gene Model	ENSMUSG00000037514 (Evidence)
Entrez Gene	74450 (Evidence)
Consensus CDS Project	CCDS16761.1
International Mouse Knockout Project Status	Pank2

Sequences

Length	Strain/Species
genomic	OTTMUSG00000016043	VEGA Gene Model | MGI Sequence Detail	36694	C57BL/6J
transcript	OTTMUST00000038271	VEGA | MGI Sequence Detail	4266	Not Applicable
polypeptide	OTTMUSP00000017161	VEGA | MGI Sequence Detail	443	Not Applicable

All sequences(52) RefSeq(2) UniProt(4)

Polymorphisms

SNPs(173 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR004567	Type II pantothenate kinase
Protein Ontology	PR:000012256	pantothenate kinase 2, mitochondrial

References

(Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(Latest) J:191150 Brunetti D, et al., Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model. Hum Mol Genet. 2012 Dec 15;21(24):5294-305
All references(39)

Other accession IDs

MGI:2139023